LATEST NEWS
AxD RESEARCHNew Community Statement on the Alexander disease program from Ionis
October 19, 2021
Please see the latest community statement on the Alexander disease program from Ionis. End Alexander Disease is here to ensure that the voices of Alexander disease patients and families are heard. Caring for your child is your number one priority, so please feel free to let me be your advocate if you have questions or concerns. Leigh@endaxd.orgDownload Alexander ...
Clinical Trials for Alexander Disease have Begun!
August 3, 2021
We are thrilled that Ionis has initiated a clinical trial in Alexander disease! The first site has posted on clinicaltrials.gov and Ionis has released a community statement. Patients and families have waited a long time for this day! While this is an incredibly exciting time, we want to encourage our community members to be cognizant of international travel ...
Welcome to End AxD
September 1, 2020
We're excited to launch End AxD as a place for us to merge our individual efforts into one group project to End Alexander Disease. End AxD was founded by Patient Advocates in partnership with Doctors and Researchers to provide you with the most up to date, accurate information, and push forward research so that we can get effective treatments and an eventual cure for ...
Waisman Center: Alexander Disease
August 19, 2020
Alexander disease, a leukodystrophy, is a progressive and usually fatal neurological disorder in which the destruction of white matter in the brain is accompanied by the formation of abnormal deposits known as Rosenthal fibers. Rosenthal fibers are aggregations of protein that occur in astrocytes, which are cells that support the brain. These protein collections are ...
Rare Disease Database
August 19, 2020
SummaryAlexander disease is an extremely rare, usually progressive and fatal, neurological disorder. Initially it was detected most often during infancy or early childhood, but as better diagnostic tools have become available has been found to occur with similar frequency at all stages of life. Alexander disease has historically been included among the ...
Genetics Home Reference: Alexander Disease
August 17, 2020
Alexander disease is a rare disorder of the nervous system. It is one of a group of disorders, called leukodystrophies, that involve the destruction of myelin. Myelin is the fatty covering that insulates nerve fibers and promotes the rapid transmission of nerve impulses. If myelin is not properly maintained, the transmission of nerve impulses could be disrupted. ...
Alexander Disease (AxD) Natural History Research
August 11, 2020
The Leukodystrophy Center at Children’s Hospital of Philadelphia currently has two ongoing research studies exploring the natural history of Alexander disease (AxD). Individuals of any age diagnosed with Alexander disease are eligible to participate. The data obtained from both of these studies will be used for the design of future clinical trials.Study #1 ...
Towards genomic database of Alexander disease to identify variations modifying disease phenotype
October 14, 2019
AbstractAlexander disease (AxD) is an extremely rare neurodegenerative disorder caused by glial fibrillary acidic protein (GFAP) gene mutations. Compared with the cerebral type, which is characterized by infantile onset, the bulbospinal type and intermediate form are associated with a late onset, spanning from juveniles to the elderly, and more diverse clinical ...
Alexander Disease Information Page
March 27, 2019
Recent discoveries show that most individuals (approximately 90 percent) with Alexander disease have a mutation in the gene that makes glial fibrillary acidic protein (GFAP). GFAP is a normal component of the brain, but it is unclear how the mutations in this gene causes the disease. In most cases mutations occur spontaneously are not inherited from ...